Cleft Lip and Palate

A 35-year-old mother brings her 1-week-old female infant to your clinic for difficulty with breastfeeding. The mother reveals that she had no prenatal care during her pregnancy and gave birth at home. She notes that her infant has difficulty latching onto her nipple and she occasionally sees breast milk coming out of the infant’s nose. On examination, you note that there are no obvious facial deformities, however, inspection of the oral cavity reveals a defect in the hard palate and visualization into the nasal cavity. You then decide to refer the patient to a craniofacial clinic.

Introduction

Etiology

causes are multifactorial

Genetics

concordance rate for monozygotic twins is approximately 40-60%

suggests that genetics does not act alone

Epidemiology

incidence

predominant congenital anomaly of the head and neck

cleft lip occurs in 1 in 1,000

occurs more often in males

cleft palate occurs in 1 in 2,000

occurs more often in females

of the known 200 syndromes associated with cleft lip and palate, van der Woude syndrome is the most common

due to mutations on chromosome 1

characterized by facial deformities, most commonly lip pits

risk factors

alcohol

tobacco

phenytoin

retinoic acid

Studies

Prenatal ultrasound

can diagnose facial deformities as early as 18 weeks

accuracy improves with gestational age

upon diagnosis infant and family are immediately referred to a craniofacial center for management

Following diagnosis, infant is screened for any other congenital abnormalities

Treatment

Primary treatment is surgical correction

Children with cleft palate often have difficulty sucking due to air leakage between the nose and mouth

breast-feeding is often ineffective and specialized bottles with positional techniques are available to ensure adequate intake

surgery for cleft lip is usually performed around 3 months of age

surgery for cleft palate is usually performed around 1 year of age, when speech is beginning to develop

orthodontic devices may be used to decrease size of cleft lip prior to definitive repair

Referral to a craniofacial clinic is necessary and comprises multiple specialists that include

otolaryngology

plastic surgery

oral maxillofacial surgery

dentistry

genetic counseling

speech-language pathology and audiology

Cleft Lip

Pathophysiology

maxillary and medial nasal prominences fail to fuse together

resulting in the characteristic persistent labial groove (cleft lip)

complete vs. incomplete cleft lip

bilateral vs. unilateral

Cleft Palate

Pathophysiology

can be divided into anterior and posterior cleft palate

demarcating line is incisive foramen

anterior cleft palate

failure of fusion of palatine shelves with primary plate

posterior cleft palate

failure of fusion of the palatine shelves together and with the nasal septum

anteroposterior cleft palate

combination of the above two defects

Note

cleft lip and cleft palate have separate embryological causes but many times occur together

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(M1.EB.31)
A fourth-year medical student travels to Asia to participate in a medical mission. On the first day, she sees a mother and her two-year-old child (Figure A). The mother states that as an infant, the child was slow to gain weight, but was otherwise healthy and her pregnancy was uncomplicated. The child is now learning to speak, but is having difficulty. What is the embryologic etiology of the craniofacial abnormality seen?Review Topic

QID:
101925

FIGURES:

A

1

Failure of palatine shelves to fuse with each other

7%

(4/57)

2

Failure of maxillary prominences to fuse with the medial nasal process

65%

(37/57)

3

Failure of maxillary prominences to fuse with the lateral nasal process